All diseases

OMIM ID
212140
OMIM term:
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
Alternative terms:
SYSTEMIC CARNITINE DEFICIENCY; SCD
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
CARNITINE DEFICIENCY, PRIMARY
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
CARNITINE UPTAKE DEFECT; CUD
(∗) Location:
5q31.1  
(†) Associated OMIM genes:
SLC22A5  
(‡) Associated MGI genes:
Slc22a5  

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